Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: Proof of concept

GUTIÉRREZ, LEANDRO G.*PRIMERA AUTORIA COMPARTIDA; ABELLEYRO, MIGUEL M.*PRIMERA AUTORIA COMPARTIDA; RUIZ, MARÍA SOL; ANCHORDOQUI, MARÍA SOL; FREITAS, JOSEFINA; BIANCHINI, MICHELE; DE BRASI, CARLOS D.; LARRIPA, IRENE B.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

WALTER DE GRUYTER & CO

Año: 2021 vol. 59 p. 449 - 453

1434-6621

Chronic myeloid leukemia (CML) is a myeloproliferativeneoplasm characterized by the presence of the Philadelphiachromosome, which contains the BCR-ABL1 fusion gene.The international conventional standardized method forroutine monitoring of CML patients under tyrosine kinaseinhibitor therapy is based on real-time quantitative reversetranscription-PCR (qRT-PCR) of BCR-ABL1 [1]. Achieving adeep molecular response (DMR, BCR-ABL1 ≤0.01% IS) byqRT-PCR [2], is associated with superior progression-freesurvival and overall survival [3]. However, the evidenceof persistent leukemia clones in patients with CMLwho maintain a deep molecular response after treatmentdiscontinuation suggested the utility of using genomicBCR-ABL1 (gBCR-ABL1) as a useful complementary sub-strate to evaluate minimal residual disease (MRD)